Gene Summary

Name:
ras responsive element binding protein 1
Synonyms:
B930013M22Rik,  1110037N09Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased leukocyte cell number Rreb1tm1b(EUCOMM)Wtsi HET   Early adult 6.56×10-05
decreased circulating calcium level Rreb1tm1b(EUCOMM)Wtsi HET Early adult 6.72×10-06
decreased erythrocyte cell number Rreb1tm1b(EUCOMM)Wtsi HET Early adult 4.99×10-07
decreased total body fat amount Rreb1tm1b(EUCOMM)Wtsi HET Early adult 3.55×10-05
increased red blood cell distribution width Rreb1tm1b(EUCOMM)Wtsi HET Early adult 6.06×10-07
decreased hemoglobin content Rreb1tm1b(EUCOMM)Wtsi HET Early adult 7.13×10-07
decreased circulating serum albumin level Rreb1tm1b(EUCOMM)Wtsi HET Early adult 5.52×10-05
decreased hematocrit Rreb1tm1b(EUCOMM)Wtsi HET Early adult 4.89×10-07
increased lean body mass Rreb1tm1b(EUCOMM)Wtsi HET Early adult 2.43×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Rreb1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Rreb1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
22Q11.2 Deletion Syndrome
Hypocalcemia, Obesity, Splenomegaly, Inguinal hernia, Failure to thrive, Abnormal dental enamel m... ORPHA:567

The table below shows human diseases predicted to be associated to Rreb1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration ORPHA:231249
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anisocytosis, Reduced red cell pyruva... ORPHA:766
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Anisocytosis, Splenomegaly, Con... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... OMIM:224120
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ... OMIM:615631
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... ORPHA:86841
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Generalized lipodystrophy,... OMIM:612526
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Splenomegaly ORPHA:100025
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Anemia, Hypoalbumi... OMIM:209950
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Splenomegaly, Elevated circulating C-... OMIM:616050
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... ORPHA:398063
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Hyperbilirubinemia, Abnormal erythrocyte... ORPHA:98870
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Increased circulating ferritin concentration, Hypochromia OMIM:205950
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Anemia, Hypoalbuminemia, ... ORPHA:507
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Leukocytosis, Hepatosplenomegaly, Thr... OMIM:618963
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Failure to thrive, Splenomegaly ORPHA:172
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Flexion contracture OMIM:615883
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Hypoal... ORPHA:2070
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hypoalbuminemia, Failure to thrive in infancy OMIM:618805
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hyponatremia, Hemophag... OMIM:267700
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Hypercholesterolemia, Hypoalbumine... OMIM:616000
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Failure to thrive, Hypoalbuminemia, Camptodactyly, Thrombocytopenia OMIM:608104
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly OMIM:619658
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia, Hypoproteinemia, Hypoalbuminemia OMIM:600351
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnormal natural ki... ORPHA:158061
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Po... OMIM:616959
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess ORPHA:89937
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia, Weight loss ORPHA:517
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Reduced haptoglobin level, Anisocytosis, Spherocytosis, He... ORPHA:71275
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Acute myeloid leukemia, Abnormal mean c... ORPHA:86839
X-Linked Agammaglobulinemia
Cellulitis, Recurrent cutaneous abscess formation, Hypocalcemia, Neutropenia, Anemia, Failure to ... ORPHA:47
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Anemia, Hypoalbumine... ORPHA:90362
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hypoalbuminemia, Hepatosplenomegaly, Hypertriglyceridemia OMIM:619013
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hepatosp... OMIM:603553
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Anemia, Hypocalcemia ORPHA:53
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, Failure to thrive, Pyrimidin... OMIM:258900
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Neutropenia, Anemia, Hypoalbuminemia, T... ORPHA:292
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Anemia, Cachexia, Hypomagnesemia OMIM:175500
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Chylomicron Retention Disease
Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Ménétrier Disease
Hypoproteinemia, Weight loss, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Rhabdoid Tumor
Anemia, Thrombocytopenia, Weight loss, Hypercalcemia ORPHA:69077
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Obesity, Hyperphosphatemia OMIM:603233
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Hypocalcemia, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:259700
Hepatoportal Sclerosis
Leukopenia, Splenomegaly, Anemia, Hyperbilirubinemia, Hypoalbuminemia, Hypersplenism, Thrombocyto... ORPHA:64743
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Lung abscess, Anemia, Hypoalbuminemia, Liver abscess, Weight loss ORPHA:67
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia OMIM:617156
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Enamel hypoplasia OMIM:618349
Wolcott-Rallison Syndrome
Decreased body weight, Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyp... ORPHA:1667
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia ORPHA:163693
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Weight loss, Hypoalbuminemia, Abnormal circula... ORPHA:103910
Juvenile Polyposis Syndrome
Anemia, Failure to thrive, Hypokalemia, Hypoalbuminemia OMIM:174900
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia OMIM:226300
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Hypophosphatasia
Anemia, Hypercalcemia, Failure to thrive in infancy ORPHA:436
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Th... ORPHA:848
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Macrocytic anemia,... ORPHA:3202
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Failure to thrive in infancy, Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholester... ORPHA:247598
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia... ORPHA:540
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Hypocalcemia, Splenomegaly, Anemia, Hypochromic microcytic anemia, Hy... OMIM:259720
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Failure to thrive in inf... ORPHA:231226
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Failure to thrive, Hyperbilirubinemia, Hypoalbuminemia, Thrombocytopenia OMIM:251880
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Lymphopenia, Hypertriglyceridemia OMIM:617575
Colchicine Poisoning
Hypokalemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophos... ORPHA:31824
Congenital Analbuminemia
Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, ... ORPHA:86816
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Failure to thrive, Chronic hemolytic anemia, Hemo... OMIM:618278
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Small for gestational age, Hypocalcemia, Anemia, Hyperphosphatemia OMIM:127000
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Alg6-Cdg
Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Galloway-Mowat Syndrome 6
Decreased body weight, Hypoalbuminemia OMIM:618347
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Cellulitis, Elevated circulating creatinine concentrat... ORPHA:36234
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Failure to thriv... ORPHA:37042
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Flexion contracture, Splenomegaly, Neutropenia, Anemia, Hypoalbuminemia, Thrombocytop... OMIM:617303
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased body weight, Flexion contracture, Atypical scarring of skin, Decreased serum zinc, Decr... ORPHA:89842
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Oculoskeletodental Syndrome
Hypercalcemia, Small for gestational age, Hypocalcemia, Splenomegaly, Elbow flexion contracture OMIM:618440
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Thrombocytosis, Hypocalcemia, Iron deficiency anemia, Failure to thrive, Macro... OMIM:212750
Erythrocytosis, Familial, 2
Failure to thrive, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Neuroleptic Malignant Syndrome
Leukocytosis, Hyponatremia, Thrombocytosis, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated c... ORPHA:94093
Gracile Bone Dysplasia
Hypoplastic spleen, Failure to thrive, Hypocalcemia, Asplenia OMIM:602361
Adamantinoma
Hypercalcemia ORPHA:55881
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia, Small for gestational age OMIM:256300
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany ORPHA:94089
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia OMIM:606407
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Thrombocytosis, Anemia, Hyperbilirubinemia, Hypoalbumin... ORPHA:88673
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia OMIM:602579
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia, Enamel hypoplasia ORPHA:557003
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Avian Influenza
Leukopenia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Elevated cir... ORPHA:454836
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Thrombocytosis, Abnormal subcutaneous fat tissue distribution, Failure to th... OMIM:212065
Congenital Erythropoietic Porphyria
Scarring, Increased erythrocyte protoporphyrin concentration, Leukopenia, Abnormal circulating po... ORPHA:79277
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age OMIM:618858
Familial Isolated Hypoparathyroidism
Hypocalcemia, Abnormal dental enamel morphology ORPHA:2238
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Anemia, Failure to thrive, Hemolytic anemia, Hypoalbuminemia, Weight loss OMIM:619487
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Hepatosplenomegaly, Hypoalbuminemia, Flexion contracture ORPHA:367
Timothy Syndrome
Hypocalcemia OMIM:601005
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Hypercalcemia, Infantile, 2
Failure to thrive, Hypophosphatemia, Hypercalcemia OMIM:616963
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal adipose tissue morphology, Hypophosphatemia, Hypocalcemia ORPHA:93160
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Al Amyloidosis
Howell-Jolly bodies, Anemia, Hypoalbuminemia, Increased circulating NT-proBNP concentration, Weig... ORPHA:85443
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Splenomegaly, Anemia, Failure to thrive, Calcinosis, Hypophosphatemia OMIM:239200
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hypermethioninemia, Elevated circulating creatine kinase concentration, Fail... ORPHA:88618
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Decreased body... ORPHA:247585
Abetalipoproteinemia
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Acanthocytosis, Anemia, Failure to ... ORPHA:14
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Anemia, Failure to thrive, Hypoalbuminemia, Scarring, Atrophic scars ORPHA:79396
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Hypocalcemia, Obesity, Overweight, Elevated circulati... ORPHA:26793
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Anemi... ORPHA:2785
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Elevated circulating C-reactive protein concentra... OMIM:607115
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Obesity, Abnormal dental enamel morphology, Episodi... ORPHA:251004
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Juvenile Polyposis Of Infancy
Subcutaneous lipoma, Anemia, Cachexia, Hypoalbuminemia, Refractory anemia ORPHA:79076
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypocalcemia, Small for gestational age OMIM:607143
Trichohepatoenteric Syndrome 1
Small for gestational age, Thrombocytosis, Hypermethioninemia, Abnormality of iron homeostasis, F... OMIM:222470
Hypophosphatasia, Infantile
Anemia, Failure to thrive, Hypercalcemia, Elevated plasma pyrophosphate OMIM:241500
Alg12-Cdg
Hyponatremia, Abnormal adipose tissue morphology, Failure to thrive, B lymphocytopenia, Hypoalbum... ORPHA:79324
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age OMIM:606176
Insulin-Resistance Syndrome Type B
Decreased body weight, Leukopenia, Abnormal circulating lipid concentration, Hypotriglyceridemia,... ORPHA:2298
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Leukopenia, Flexion contracture, Hernia, Anemia, Hypoalbuminemia, Thrombocyto... ORPHA:505248
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Failure to thrive, Hypophosphatemia ORPHA:289157
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Pearson Syndrome
Pancytopenia, Hypoplastic spleen, Hypokalemia, Small for gestational age, Hypocalcemia, Splenomeg... ORPHA:699
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased HbA2 hemoglobin, Abnormality of iron ho... ORPHA:231222
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Inguinal hernia ORPHA:1655
Erythrocytosis, Familial, 8
Normocytic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Polycythemia, Normochromic anemia OMIM:222800
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Xfe Progeroid Syndrome
Corneal scarring, Enamel hypoplasia, Failure to thrive, Absence of subcutaneous fat, Cachexia, Hy... OMIM:610965
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Small for gestational age, Slender build, Hypocalcemia, Inguinal hernia, Anemia, Fa... OMIM:613658
Familial Isolated Hyperparathyroidism
Chondrocalcinosis, Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hyponatremia, Hyperkalemia, Hypocalcemia, Hemolytic anemia, Thrombocytopenia, Brain... ORPHA:544482
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypocalcemia, Thrombocytopenia, Hyperbilirubinemia ORPHA:163979
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Blue Diaper Syndrome
Hyperphosphatemia, Increased body weight, Hypercalcemia ORPHA:94086
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lipodystrophy, Leukocytosis, Failure to thrive in infancy, Neutrophilia, Elevated circulating C-r... OMIM:617099
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Sanjad-Sakati Syndrome
Hypocalcemia, Abnormal dental enamel morphology, Hyperphosphatemia ORPHA:2323
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Pseudo-Torch Syndrome 3
Congenital thrombocytopenia, Anemia, Increased circulating ferritin concentration, Leukocytosis OMIM:618886
Relapsing Fever
Leukopenia, Leukocytosis, Elevated circulating creatinine concentration, Neutrophilia, Elevated c... ORPHA:91547
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Hypokalemia, Leukopenia, Elevated circulating creatinine concentr... ORPHA:99826
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Obesity, Calcinosis, Hyperphosphatemia, H... ORPHA:79444
Cartilage-Hair Hypoplasia
Neutropenia, Anemia, Failure to thrive, Hypocalcemia ORPHA:175
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Failure to thrive, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Leukocytosis, Anemia, Acute monocytic leukemia, Lymphocytosis, Weight loss ORPHA:514
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia, Cachexia, T... ORPHA:824
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperuricemia, Failure to thrive, M... ORPHA:199299
Thymic Aplasia
T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, Failu... ORPHA:83471
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Anemia, Hyperproteine... ORPHA:29073
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Failure to thrive, Flexion contracture, HbH hemoglobin ORPHA:98791
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Elevated circulating C-reactive protein concentration, Splenomegaly OMIM:611762
Cholera
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia ORPHA:173
Double Outlet Right Ventricle
Failure to thrive, Hypocalcemia ORPHA:3426
Hypocalciuric Hypercalcemia, Familial, Type Ii
Multiple lipomas, Chondrocalcinosis, Hypermagnesemia, Hypercalcemia OMIM:145981
Pseudohypoparathyroidism, Type Ic
Obesity, Hyperphosphatemia, Hypocalcemic tetany, Enamel hypoplasia OMIM:612462
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Failure to thrive in infancy ORPHA:746
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Increased total iron binding capacity, Hypermanganesemia, Polycy... OMIM:613280
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Reduced circulating transferrin concentration, Hypocholesterolemia, Lymphopenia,... ORPHA:90363
Autosomal Recessive Malignant Osteopetrosis
Anemia, Hypocalcemia, Hypophosphatemia, Splenomegaly ORPHA:667
Galloway-Mowat Syndrome 3
Camptodactyly, Failure to thrive, Hypoalbuminemia, Hiatus hernia OMIM:617729
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Failure to thrive, Hypoalbuminemia, Small for... OMIM:619055
Gitelman Syndrome
Hypokalemia, Hypocalcemia, Iron deficiency anemia, Failure to thrive, Chondrocalcinosis, Hypermag... ORPHA:358
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia... ORPHA:466650
Gaisböck Syndrome
Increased hematocrit, Increased circulating renin level, Hypercholesterolemia, Obesity, Increased... ORPHA:90041
Pseudohypoparathyroidism, Type Ia
Obesity, Hyperphosphatemia, Hypocalcemic tetany, Enamel hypoplasia OMIM:103580
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Anemia, Extramedullary hematopoiesis OMIM:612840
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia OMIM:619769
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:120100
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hyperalaninemia, Hypoalbuminemia OMIM:618329
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Obesity, Calcinosis, Hyperphosphatemia, H... ORPHA:79443
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Small for gestational age OMIM:619278
Mastocytosis
Chronic leukemia, Mastocytosis, Hypercalcemia, Splenomegaly, Acute leukemia ORPHA:98292
Hypercalcemia, Infantile, 1
Failure to thrive, Infantile hypercalcemia, Weight loss OMIM:143880
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia, Hyponatremia ORPHA:83601
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Failure to thrive in inf... ORPHA:231214
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:95409
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis ORPHA:98827
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Decreased proportion of naive T cells, Splenomegaly, Elevated circulating C-re... OMIM:619381
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Camptodactyly, Umbilical hernia, Hypoalbuminemia, Joint contracture of the hand OMIM:235510
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Elevated hemoglobin A1c, Hypertriglyceridemia, Increased LDL cholesterol concentration, ... OMIM:618620
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Galloway-Mowat Syndrome 1
Hiatus hernia, Small for gestational age, Hypoalbuminemia, Camptodactyly, Joint contracture of th... OMIM:251300
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Increase... ORPHA:98850
Glucose-Galactose Malabsorption
Hypernatremia, Failure to thrive, Weight loss, Hypercalcemia ORPHA:35710
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia, Weight loss ORPHA:90060
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c OMIM:610582
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Hypercalcemia, Chondrocalcinosis, Hypermagnesemia, Hypophosphatemia OMIM:600740
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Lipoma, Chondrocalcinosis, Hyperma... ORPHA:405
Hennekam Syndrome
Camptodactyly of finger, Hypocalcemia, Lymphopenia, Splenomegaly ORPHA:2136
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1930
Non-Functioning Paraganglioma
Weight loss, Hypercalcemia ORPHA:94080
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Shwachman-Diamond Syndrome 1
Pancytopenia, Small for gestational age, Acute myeloid leukemia, Neutropenia, Anemia, Failure to ... OMIM:260400
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Infantile Myofibromatosis
Chondrocalcinosis, Hypercalcemia ORPHA:2591
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:85138
22Q11.2 Deletion Syndrome
Hypocalcemia, Obesity, Splenomegaly, Inguinal hernia, Failure to thrive, Abnormal dental enamel m... ORPHA:567
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia ORPHA:186
Velocardiofacial Syndrome
Inguinal hernia, Umbilical hernia, Hypocalcemia OMIM:192430
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Hereditary Chronic Pancreatitis
Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Vipoma
Subcutaneous lipoma, Hypokalemia, Hypercalcemia, Normochromic anemia, Weight loss ORPHA:97282
Digeorge Syndrome
Hypocalcemia, Obesity, Splenomegaly, Femoral hernia, Inguinal hernia, Anemia, Hypoplasia of the t... OMIM:188400
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:614204
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Thymoma
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Weight loss ORPHA:99867
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Glucagonoma
Subcutaneous lipoma, Hypercalcemia, Acanthocytosis, Normochromic anemia, Weight loss ORPHA:97280
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Splenomegaly, Weight loss, Hypoalbuminemia ORPHA:171
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Somatostatinoma
Subcutaneous lipoma, Weight loss, Hypercalcemia, Hypochromic microcytic anemia ORPHA:97283
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Small for gestational age, Neutropenia, Thrombocytopenia ORPHA:391673
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hip contracture, Hypercalcemia, Knee flexion contracture OMIM:156400
Sweet Syndrome
Sterile abscess, Leukocytosis, Neutrophilia, Acute myeloid leukemia, Elevated circulating C-react... ORPHA:3243
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Obesity, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Schistocytosis, Hypokalemia, Leukocytosis, Elevated circulating creatinine concentration, Hyponat... ORPHA:90038
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Blackfan-Diamond Anemia
Leukopenia, Small for gestational age, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukem... ORPHA:124
Immunodeficiency 92
Leukocytosis, Thrombocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B ... OMIM:619652
Thymic Neuroendocrine Tumor
Weight loss, Hypercalcemia ORPHA:97289
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Cranioectodermal Dysplasia 1
Hypocalcemia, Enamel hypoplasia OMIM:218330
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatosplenomegaly, Flexion contracture, Enamel hypoplasia, Hypocalcemia, Reduced subcutaneous ad... OMIM:619503
Osteopetrosis, Autosomal Recessive 7
Anemia, Splenomegaly, Hypocalcemic seizures OMIM:612301
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Obesity, Hyperphosphatemia ORPHA:280651
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Small for gestational age, Hypochloremia, Increased circulating renin level, Hyperca... OMIM:601678
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Failure to thrive, Hypophosphatemia, Hypocalcemic seizures, Enamel hypoplasia OMIM:264700
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Hypercalcemia ORPHA:276621
Sickle Cell Anemia
Increased red cell sickling tendency, Leukocytosis, Hemolytic anemia, Splenomegaly OMIM:603903
Vitamin D-Dependent Rickets, Type 2A
Failure to thrive, Hypophosphatemia, Hypocalcemic seizures, Enamel hypoplasia OMIM:277440
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Umbilical hernia, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Parathyroid Carcinoma
Hypercalcemia, Infantile hypercalcemia, Lipoma, Chondrocalcinosis, Hypophosphatemia, Weight loss ORPHA:143
Lead Poisoning
Small for gestational age, Imbalanced hemoglobin synthesis, Anemia, Increased LDL cholesterol con... ORPHA:330015
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia ORPHA:476126
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia, Flexion contracture ORPHA:847
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... OMIM:619534
Tropical Endomyocardial Fibrosis
Eosinophilia, Hypoalbuminemia, Splenomegaly, Cachexia ORPHA:75565
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Infantile hypercalcemia, Lipoma, Chondrocalcinosis, Hypophosphatemia ORPHA:99880
Monosomy 13Q34
Infantile hypercalcemia, Obesity ORPHA:96168
Charge Syndrome
Omphalocele, Hypocalcemia, Umbilical hernia, Lymphopenia OMIM:214800
Sarcoidosis
Eosinophilia, Leukopenia, Hypercalcemia, Increased T cell count, Anemia, Hemolytic anemia, Scarri... ORPHA:797
Zollinger-Ellison Syndrome
Lipoma, Weight loss, Hypercalcemia, Multiple lipomas ORPHA:913
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Obesity, Hypercalcemia ORPHA:369837
Hereditary Pheochromocytoma-Paraganglioma
Weight loss, Hypercalcemia ORPHA:29072
Hypophosphatemic Rickets
Periapical tooth abscess, Hypercalcemia, Odontodysplasia, Tooth abscess, Failure to thrive, Enthe... ORPHA:437
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Hypercalcemia OMIM:131100
Ppoma
Subcutaneous lipoma, Weight loss, Hypercalcemia ORPHA:97278
Urachal Cyst
Leukocytosis, Elevated circulating C-reactive protein concentration, Abscess ORPHA:488
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Grfoma
Subcutaneous lipoma, Weight loss, Hypercalcemia ORPHA:97261
Pheochromocytoma
Hypercalcemia OMIM:171300
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Increased hematocrit ORPHA:100076
Johanson-Blizzard Syndrome
Failure to thrive, Hypocalcemia, Increased VLDL cholesterol concentration, Small for gestational age OMIM:243800
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Pmm2-Cdg
Lipodystrophy, Multiple joint contractures, Impaired neutrophil chemotaxis, Abnormal subcutaneous... ORPHA:79318
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Reduced subcutaneous adipose tissue ORPHA:653
Multiple Endocrine Neoplasia Type 4
Subcutaneous lipoma, Hypercalcemia ORPHA:276152
Multiple Endocrine Neoplasia Type 1
Multiple lipomas, Weight loss, Hypercalcemia ORPHA:652
Williams Syndrome
Failure to thrive in infancy, Hypercalcemia, Abnormal circulating lipid concentration, Obesity, I... ORPHA:904
Sotos Syndrome
Flexion contracture, Hypercalcemia, Bilateral camptodactyly, Ankle flexion contracture, Inguinal ... ORPHA:821
Williams-Beuren Syndrome
Flexion contracture, Failure to thrive in infancy, Hypercalcemia, Obesity, Inguinal hernia, Umbil... OMIM:194050

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rreb1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rreb1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Rreb1tm1b(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)